Linked Data
ClinVar Variation Id:
1337015
ClinVar RCV Id:
RCV001819501
dbSNP Id:
rs532883519
ExAC:
7:92733295 C / A
gnomAD v2:
7-92733295-C-A
gnomAD v3:
7-93103982-C-A
gnomAD v4:
7-93103982-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93103982C>A , CM000669.2:g.93103982C>A | GRCh38 |
| NC_000007.13:g.92733295C>A , CM000669.1:g.92733295C>A | GRCh37 |
| NC_000007.12:g.92571231C>A | NCBI36 |
| NG_023419.1:g.19042G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379958.3:c.2116G>T MANE Select | ENSP00000369292.2:p.Val706Phe | |
| ENST00000379958.2:c.2116G>T | ENSP00000369292.2:p.Val706Phe | |
| ENST00000446617.1:c.2116G>T | ENSP00000414529.1:p.Val706Phe | |
| ENST00000620985.4:c.2116G>T | ENSP00000484636.1:p.Val706Phe | |
| NM_001193307.1:c.2116G>T | NP_001180236.1:p.Val706Phe | |
| NM_017654.3:c.2116G>T | NP_060124.2:p.Val706Phe | |
| NM_017654.4:c.2116G>T MANE Select | NP_060124.2:p.Val706Phe | |
| NM_001193307.2:c.2116G>T | NP_001180236.1:p.Val706Phe |